Recurrent primary spontaneous pneumothorax in a large Chinese family: a clinical and genetic investigation.

CONCLUSIONS: A novel nonsense mutation of FLCN gene was found in a large family with PSP in China. Our results expand the mutational spectrum of FLCN gene in patients with BHD syndrome.
PMID: 31567476 [PubMed - as supplied by publisher]

Source: Chinese Medical Journal - September 18, 2019 Category: General Medicine Authors: Zheng CM, Hu XX, Gao YL, Miao JB, Li H Tags: Chin Med J (Engl) Source Type: research